| GENE NAME | PITX2 |
| CHROMOSOME | 4 |
| ENSEMBL ID | ENSG00000164093 |
| ENTREZ ID | 5308 |
| UNIPROT ACCESSION NUMBER | Q99697 |
| GO MOLECULAR FUNCTION | protein binding; DNA-binding transcription factor activity, RNA polymerase II-specific; transcription cis-regulatory region binding; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity; RNA polymerase II-specific DNA-binding transcription factor binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-8864260; hsa04350; R-HSA-74160; R-HSA-212436; R-HSA-73857; R-HSA-8866906 |
| 4 combinations linked to PITX2 | OLI1170; OLI768; OLI253; OLI767 |
| 4 variants linked to PITX2 | PITX2:c.698C>T, p.Ser233Leu; PITX2:c.535C>A, p.Pro179Thr; PITX2:c.562G>A, p.Ala188Thr; PITX2:c.114G>T, p.Thr38= |
| 3 diseases linked to PITX2 | Congenital glaucoma; Kallmann syndrome; Axenfeld-Rieger syndrome |